Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

Max A Tischfield; Hagit N Baris; Chen Wu; Guenther Rudolph; Lionel Van Maldergem; Wei He; Wai-Man Chan; Caroline Andrews; Joseph L Demer; Richard L Robertson; David A Mackey; Jonathan B Ruddle; Thomas D Bird; Irene Gottlob; Christina Pieh; Elias I Traboulsi; Scott L Pomeroy; David G Hunter; Janet S Soul; Anna Newlin; Louise J Sabol; Edward J Doherty; Clara E de Uzcategui; Nicolas de Uzcategui; Mary Louise Z Collins; Emin C Sener; Bettina Wabbels; Heide Hellebrand; Thomas Meitinger; Teresa de Berardinis; Adriano Magli; Costantino Schiavi; Marco Pastore-Trossello; Feray Koc; Agnes M Wong; Alex V Levin; Michael T Geraghty; Maria Descartes; Maree Flaherty; Robyn V Jamieson; HU Moller; Ingo Meuthen; David F Callen; Janet Kerwin; Susan Lindsay; Alfons Meindl; Mohan L Gupta; David Pellman; Elizabeth C Engle

Journal article

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

Max A Tischfield, Hagit N Baris, Chen Wu, Guenther Rudolph, Lionel Van Maldergem, Wei He, Wai-Man Chan, Caroline Andrews, Joseph L Demer, Richard L Robertson, David A Mackey, Jonathan B Ruddle, Thomas D Bird, Irene Gottlob, Christina Pieh, Elias I Traboulsi, Scott L Pomeroy, David G Hunter, Janet S Soul, Anna Newlin Show all

Cell | CELL PRESS | Published : 2010

DOI: 10.1016/j.cell.2009.12.011

University of Melbourne Researchers

David Mackey Author Ophthalmology Eye and Ear Hospital

Jonathan Ruddle Author Ophthalmology Eye and Ear Hospital

Grants

Awarded by NIH

Awarded by Medical Research Council

Funding Acknowledgements

We thank the families for their participation; Michelle DeLisle and Carrie Wu for technical assistance and members of the Engle lab for their thoughtful comments; A. Nurten Akarsu, Peter Kang, Lisa S Kearns, James Hoekel, Marijean Miller, Marilyn Miller, Peter Roggenkamper, and Sandra Staffieri for pedigree referrals and/or clinical exam data. This work was supported by NIH R01 EY012498, R01 EY013583, HD18655 (E. C. E.), F32 EY016306 (H. B.), R01 GM061345-08 (D. P.), and VA Research Funds (T. D. B.). E. C. E. and D. P. are investigators of the Howard Hughes Medical Institute.